FlyBase Allele Report: Dmel\ninaE[D1]

General Information

Symbol

Dmel\ninaE^D1

Species

D. melanogaster

Name

FlyBase ID

FBal0046168

Feature type

allele

Associated gene

Dmel\ninaE

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Kurada and O'Tousa, 1995)

Progenitor genotype

Cytology

Description

Amino acid replacement: S137F.

(Mitra et al., 2011, Kurada and O'Tousa, 1995)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:19,887,558..19,887,558 [-]

Nucleotide change:

C19887558T

Amino acid change:

S137F | ninaE-PA

Reported amino acid change:

S137F|FBrf0080181

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Kurada and O'Tousa, 1995)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of retinitis pigmentosa

CEA

(Griciuc et al., 2010)

model of retinal degeneration

CEA

(Lee et al., 2011)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of retinitis pigmentosa

is ameliorated by TER94^26-8

(Griciuc et al., 2010)

model of retinal degeneration

is ameliorated by Arl1^GD6768

(Lee et al., 2011)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | adult stage

(Griciuc et al., 2010)

abnormal neurophysiology

(Kurada and O'Tousa, 1995)

abnormal phototaxis | adult stage

(Griciuc et al., 2010)

decreased cell number | adult stage

(Griciuc et al., 2010)

Phenotype Manifest In

endoplasmic reticulum

(Lee et al., 2011)

eye photoreceptor cell

(Lee et al., 2011)

eye photoreceptor cell | adult stage

(Griciuc et al., 2010)

ommatidium

(Kurada and O'Tousa, 1995)

retina

(Lee et al., 2011)

retina | adult stage

(Griciuc et al., 2010)

rhabdomere of eye photoreceptor cell

(Lee et al., 2011)

Detailed Description

Statement

Reference

ninaE^D1/+ photoreceptor cells show a massive membrane buildup in addition to a large accumulation of endoplasmic reticulum.

ninaE^D1/+ retinas show degeneration: a subset of rhabdomeric loss and phagocytosis by neighbouring cells.

(Lee et al., 2011)

ninaE^D1/+ mutant flies exhibit retinal degeneration, with a significant decrease in the number of photoreceptor neurons in adults after 30 days of light exposure; and these flies exhibit impaired positive phototaxis at 12 days after light exposure, but no defects in geotaxis, as compared to wild type.

(Griciuc et al., 2010)

ERG recordings demonstrate homozygotes and heterozygotes lack the prolonged depolarising afterpotential (PDA). Heterozygotes lose the deep pseudopupil by 21 days of age, homozygotes and transheterozygotes with ninaE^D2 retain the pseudopupil structure for much longer. Light enhances the rate of retinal degeneration in heterozygotes.

(Kurada and O'Tousa, 1995)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

ninaE^D1 has abnormal neuroanatomy | adult stage phenotype, suppressible by TER94[+]/TER94^26-8

(Griciuc et al., 2010)

ninaE^D1 has decreased cell number | adult stage phenotype, suppressible by TER94[+]/TER94^26-8

(Griciuc et al., 2010)

ninaE^D1 has abnormal phototaxis | adult stage phenotype, suppressible by TER94[+]/TER94^26-8

(Griciuc et al., 2010)

ninaE^D1 has increased cell death phenotype, suppressible by BacA\p35^GMR.PH

(Hsu et al., 2004)

Other

Statement

Reference

Arl1^GD6768, Scer\GAL4^ninaE.PTa, ninaE^D1 has decreased cell size phenotype

(Lee et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

ninaE^D1 has eye photoreceptor cell phenotype, suppressible by Scer\GAL4^ninaE.PTa/Arl1^GD6768

(Lee et al., 2011)

ninaE^D1 has retina phenotype, suppressible by Scer\GAL4^ninaE.PTa/Arl1^GD6768

(Lee et al., 2011)

ninaE^D1 has rhabdomere of eye photoreceptor cell phenotype, suppressible by Scer\GAL4^ninaE.PTa/Arl1^GD6768

(Lee et al., 2011)

ninaE^D1 has eye photoreceptor cell | adult stage phenotype, suppressible by TER94[+]/TER94^26-8

(Griciuc et al., 2010)

ninaE^D1 has retina | adult stage phenotype, suppressible by TER94[+]/TER94^26-8

(Griciuc et al., 2010)

ninaE^D1 has retina phenotype, suppressible by BacA\p35^GMR.PH

(Hsu et al., 2004)

NOT suppressed by

Statement

Reference

ninaE^D1 has endoplasmic reticulum phenotype, non-suppressible by Scer\GAL4^ninaE.PTa/Arl1^GD6768

(Lee et al., 2011)

Suppressor of

Statement

Reference

ninaE^D1 is a suppressor of phenotype of norpA^P24

(Kurada and O'Tousa, 1995)

ninaE^D1 is a suppressor of phenotype of rdgC³⁰⁶

(Kurada and O'Tousa, 1995)

Other

Statement

Reference

Arl1^GD6768, Scer\GAL4^ninaE.PTa, ninaE^D1 has eye photoreceptor cell phenotype

(Lee et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Scer\GAL4^ninaE.PTa-mediated expression of Arf72A^GD6768 greatly reduces abnormal membrane buildup of ninaE^D1/+ photoreceptor cells, although the endoplasmic reticulum-like membrane accumulation remains.

Scer\GAL4^ninaE.PTa-mediated expression of Arf72A^GD6768 suppresses the retinal phenotype of ninaE^D1/+ by delaying the degeneration of rhabdomeres and ommatidial structures.

The overall size of aged ninaE^D1/+ cells that also express Arf72A^GD6768 under the control of Scer\GAL4^ninaE.PTa is often greatly reduced.

(Lee et al., 2011)

TER94^26-8/+ partially suppresses the retinal degeneration, loss of photoreceptor neurons and fully suppresses the defective phototaxis seen in ninaE^D1/+ mutant flies.

(Griciuc et al., 2010)

The heterozygous genotype does not prevent the accumulation of endoplasmic reticulum (ER) in photoreceptor cells present in ninaA² flies.

(Kurada and O'Tousa, 1995)

Xenogenetic Interactions

Statement

Reference

Expression of BacA\p35^GMR.PH delays the degeneration of the retina in rdgB⁵ flies, but does not prevent it.

(Hsu et al., 2004)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

S137F

(Bentrop, 1998)

ninaE^D1

(Lee et al., 2011, Mitra et al., 2011, Griciuc et al., 2010, Hsu et al., 2004, Iakhine et al., 2004)

Name Synonyms

Secondary FlyBase IDs

References (11)

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